RNA-seq technique application in endothelial and leukocyte cells transcription profile evaluation in sickle cell retinopathy

• Grant number: 15/14255-6
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: September 01, 2015
• End date: August 31, 2019
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Sueli Matilde da Silva Costa
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches, AP.TEM

Abstract

Although sickle cell anemia (SCA) resulting from homozygosity for a single mutation at position 6 of the ²-hemoglobin locus, phenotypically this disease is very heterogeneous, so that different patients may have significantly different clinical outcomes. The compound heterozygous with other hemoglobin variants also modulates the polymerization of HbS, and the hemoglobin C (HbC) structural variant most frequently found in conjunction with HbS (²S²C). This genotype are relatively benign condition, but more likely to develop thromboembolic complications, retinopathy and renal papillary necrosis. The latter is triggered by vaso-occlusion of ocular microvasculature and may lead to visual impairment in 10 to 20% of affected eyes. Spontaneous regression of neovascularization has been reported in 20 to 60% of cases. The precise cause of the formation of new vessels in sickle cell disease is not fully understood, so that retinopathy these individuals offers a thought-provoking study model of its connection with a softer systemically genotype ²S²C, and the common property regress spontaneously. The RNA-seq is a promising technique for the determination of the tissue specific transcriptional profile, allowing not only to characterize protein-encoding transcripts, but also a series of regulatory RNAs. The main motivation of this study is the characterization of gene expression between the major cell types involved in retinopathy of individuals with genotype ²S²C.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

BERTOZZO, VICTOR DE HAIDAR E.; COSTA, SUELI MATILDE DA SILVA; ITO, MIRTA TOMIE; DA CRUZ, PEDRO RODRIGUES SOUSA; SOUZA, BRUNO BATISTA; RIOS, VINICIUS MANDOLESI; VITURINO, MARINA GONCALVES MONTEIRO; DE CASTRO, JULIA NICOLIELLO PEREIRA; RODRIGUES, THIAGO ADALTON ROSA; LANARO, CAROLINA; et al. Comparative transcriptome analysis of endothelial progenitor cells of HbSS patients with and without proliferative retinopathy. Experimental Biology and Medicine, v. 248, n. 8, p. 8-pg., 2023-04-03. (14/00984-3, 15/14255-6, 19/18886-1)

DA SILVA COSTA, SUELI MATILDE; ITO, MIRTA; SOUZA, BRUNO BATISTA; SOUZA CRUZ, PEDRO RODRIGUES; MONTEIRO VITURINO, MARINA GONCALVES; PRIETO, STEPHANIE OSPINA; SAEZ, ROBERTA CASAGRANDE; OZELO, MARGARETH CASTRO; COSTA, FERNANDO FERREIRA; MELO, MONICA B.. Identification of candidate genes involved in proliferative sickle cell retinopathy by RNAseq.. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, v. 59, n. 9, p. 3-pg., 2018-07-01. (14/00984-3, 15/14255-6)